Varaico: Literature-Extracted Genetic Variants

Gene:VPS4A
Variant:p.E228Q
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VPS4A

NM_013245.3:p.E228Q

Associated Papers

Rsp5/NEDD4 and ESCRT regulate TDP-43 toxicity and turnover via an endolysosomal clearance mechanism.

Byrd A et al.

The Journal of Cell Biology, 2026

Unveiling the physiological impact of ESCRT-dependent autophagosome closure by targeting the VPS37A ubiquitin E2 variant-like domain.

Hamamoto K et al.

Cell Reports, 2024

PTPN23-dependent ESCRT machinery functions as a cell death checkpoint.

Song D et al.

Nature Communications, 2024

The V-ATPase complex component RNAseK is required for lysosomal hydrolase delivery and autophagosome degradation.

Makar AN et al.

Nature Communications, 2024

Human cytomegalovirus deploys molecular mimicry to recruit VPS4A to sites of virus assembly.

Butt BG et al.

Plos Pathogens, 2024

Termination of STING responses is mediated via ESCRT-dependent degradation.

Balka KR et al.

The Embo Journal, 2023

37139896 (PubMed )
Supplement: EMBJ-42-e112712-s016.pdf

Lysosomal trafficking of the glucose transporter GLUT1 requires sequential regulation by TXNIP and ubiquitin.

Qualls-Histed SJ et al.

Iscience, 2023

ESCRT-dependent STING degradation inhibits steady-state and cGAMP-induced signalling.

Gentili M et al.

Nature Communications, 2023

A  conserved ubiquitin- and ESCRT-dependent pathway internalizes human lysosomal membrane proteins for degradation.

Zhang W et al.

Plos Biology, 2021

The ESCRT-III molecules regulate the apical targeting of bile salt export pump.

Wu SH et al.

Journal of Biomedical Science, 2021

Synthetic Lethal Interaction between the ESCRT Paralog Enzymes VPS4A and VPS4B in Cancers Harboring Loss of Chromosome 18q or 16q.

Neggers JE et al.

Cell Reports, 2020

De Novo VPS4A Mutations Cause Multisystem Disease with Abnormal Neurodevelopment.

Rodger C et al.

American Journal of Human Genetics, 2020

Aβ accumulation causes MVB enlargement and is modelled by dominant negative VPS4A.

Willén K et al.

Molecular Neurodegeneration, 2017

Asymmetric ring structure of Vps4 required for ESCRT-III disassembly.

Caillat C et al.

Nature Communications, 2015

The LXR-IDOL axis defines a clathrin-, caveolae-, and dynamin-independent endocytic route for LDLR internalization and lysosomal degradation.

Sorrentino V et al.

Journal of Lipid Research, 2013

Essential role of hIST1 in cytokinesis.

Agromayor M et al.

Molecular Biology of the Cell, 2009

The YPLGVG sequence of the Nipah virus matrix protein is required for budding.

Patch JR et al.

Virology Journal, 2008

Structural and mechanistic studies of VPS4 proteins.

Scott A et al.

The Embo Journal, 2005

Characterization of prototype foamy virus gag late assembly domain motifs and their role in particle egress and infectivity.

Stange A et al.

Journal of Virology, 2005

CHMP1 functions as a member of a newly defined family of vesicle trafficking proteins.

Howard TL et al.

Journal of Cell Science, 2001

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."